Phenotype #0000116839

Individual ID 00144061
Associated disease -
Phenotype details Age 26; visual acuity R=20/32, L=20/40; Mild pallor optic disc, vessels near normal caliber, preserved RPE posterior pole with mild epiretinal membrane, RPE changes in macula with 3 intraretinal crystals. Right eye: (mid)periphery atrophic with bone-spicules.
Diagnosis/Initial retinitis pigmentosa
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 13y
Phenotype/Onset -
Protein -
Owner name Rob W.J. Collin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2017-11-28 22:45:32 +01:00 (CET)
Date last edited 2020-08-25 10:48:31 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.